CLEC7A — 49 ClinVar variants
All ClinVar germline CLEC7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Conflicting · 3 Benign · 3 Benign/Likely benign · 11 Likely benign · 31 Uncertain significance
Full CLEC7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLEC7A p.Arg44Cys Uncertain significance Single submitter
- CLEC7A p.Arg44His Uncertain significance Single submitter
- CLEC7A p.Arg87Gly Uncertain significance Single submitter
- CLEC7A p.Asn177Thr Uncertain significance Single submitter
- CLEC7A p.Asn9His Uncertain significance Single submitter
- CLEC7A p.Asp102His Uncertain significance Single submitter
- CLEC7A p.Gln174Arg Uncertain significance Single submitter
- CLEC7A p.Gln174His Uncertain significance Single submitter
- CLEC7A p.Gln187His Uncertain significance Single submitter
- CLEC7A p.Glu90Lys Uncertain significance Single submitter
- CLEC7A p.Gly82Ser Uncertain significance Single submitter
- CLEC7A p.Ile69Thr Uncertain significance Single submitter
- CLEC7A p.Lys129Glu Uncertain significance Single submitter
- CLEC7A p.Met136Arg Uncertain significance Single submitter
- CLEC7A p.Met67Thr Uncertain significance Single submitter
- CLEC7A p.Phe84Cys Uncertain significance Single submitter
- CLEC7A p.Pro191Leu Uncertain significance Single submitter
- CLEC7A p.Pro41Ala Uncertain significance Single submitter
- CLEC7A p.Pro41Leu Uncertain significance Single submitter
- CLEC7A p.Pro41Thr Uncertain significance Single submitter
- CLEC7A p.Pro95Leu Uncertain significance Single submitter
- CLEC7A p.Pro95Ser Uncertain significance Single submitter
- CLEC7A p.Ser99Phe Uncertain significance Single submitter
- CLEC7A p.Trp194Cys Uncertain significance Single submitter
- CLEC7A p.Tyr238His Uncertain significance Single submitter
- CLEC7A p.Val115Ile Uncertain significance Single submitter
- CLEC7A p.Val225Met Uncertain significance Single submitter
- CLEC7A p.Val235Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CLEC7A variants
Conflicting classifications of pathogenicity 1
- p.Leu138= Single submitter aspergillosis, susceptibility to
Benign 3
- c.*2A>G Multiple submitters
- p.Ile223Ser Multiple submitters ⚠
- p.Ser161Leu Multiple submitters
Benign/Likely benign 3
- p.Leu133= Multiple submitters aspergillosis, susceptibility to
- p.Leu183Phe Multiple submitters ⚠
- p.Tyr238Ter Multiple submitters aspergillosis, susceptibility to
Likely benign 11
- p.Val63= Multiple submitters
- c.104-12C>T Single submitter
- c.104-14C>T Single submitter
- c.202+302T>C Single submitter
- c.202+356G>A Single submitter
- c.203-13T>C Single submitter
- c.340+9A>G Single submitter
- p.Asn123= Single submitter
- p.His224= Single submitter
- p.Met247Leu Single submitter
- c.493-10T>C No assertion criteria CLEC7A-related disorder
Uncertain significance 31
- p.Arg185Gln Single submitter ⚠
- p.Arg44Cys Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Arg87Gly Single submitter ⚠
- p.Asn177Thr Single submitter ⚠
- p.Asn9His Single submitter ⚠
- p.Asp102His Single submitter ⚠
- p.Gln174Arg Single submitter ⚠
- p.Gln174His Single submitter ⚠
- p.Gln187His Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly82Ser Single submitter ⚠
- p.Ile69Thr Single submitter ⚠
- p.Lys129Glu Single submitter ⚠
- p.Met136Arg Single submitter ⚠
- p.Met67Thr Single submitter ⚠
- p.Phe179Ser Single submitter candidiasis, familial, 4 ⚠
- p.Phe84Cys Single submitter ⚠
- p.Pro191Leu Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro41Thr Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser99Phe Single submitter ⚠
- p.Trp194Cys Single submitter ⚠
- p.Trp222Ter Single submitter aspergillosis, susceptibility to
- p.Tyr238His Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val225Met Single submitter ⚠
- p.Val235Ala Single submitter ⚠